Is Congenital Glaucoma a Genetic Disorder?

Congenital glaucoma is a disease that affects the vulnerable: infants and young children. But, what exactly causes this disease? Is it a genetic disorder? And finally, what congenital glaucoma treatment options are available to sufferers all over the world? Let’s find out.

Also known as childhood, pediatric, and infantile glaucoma, congenital glaucoma is usually diagnosed within the first few years of life. Primary congenital glaucoma is the most common type of childhood glaucoma, affecting approximately 1 in 30,000 to 1 in 2,500. In the US, the instance of this condition is roughly 1 in 10,000 live births. Secondary congenital glaucoma, on the other hand, may be the result of an eye or other physiological problems.

In 10% of the cases, the condition is apparent after birth, while 80% are diagnosed later on (up until the first year of life). Some of the telltale signs of the disease are the following:

Clouding and/or enlargement of the cornea

Elevated Intraocular Pressure (IOP)

Poor vision

Light sensitivity

Excessive blinking

Excessive tearing

Is It a Genetic Disorder?

Congenital glaucoma is an autosomal recessive disorder. According to the US Library of Medicine, people diagnosed with congenital glaucoma have mutations in the MYOC gene, which is responsible for the production of myocilin, a protein that regulates intraocular pressure (the pressure within the eye).

In addition, the CYP1B1 gene could be the cause of the genetic disorder. Around 20 to 40 percent of affected individuals suffer from a mutation in this gene. The mutation affects the development of the eye’s structures, as well as the regulation of the fluids inside the eye.

Patients with mutations in both genes develop the condition earlier on and manifest more severe symptoms.

What is the Possible Medical Treatment Method?

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The primary method of treatment for congenital glaucoma is surgery. Doctors can perform goniotomy and trabeculectomy to relieve IOP by draining fluid out of the eye. Doctors may also suggest glaucoma implant surgery should the initial surgery be unsuccessful.

Watch how parents’ intuitiveness and a team of doctor’s unique approach saved a child’s eyesight in this video by the University of Alabama in Birmingham below:

Overall, congenital glaucoma is a genetic disorder that can affect any family. So, it’s important to know the signs and symptoms of this disease to ensure prompt medical attention and treatment. With proper management and treatment, children with congenital glaucoma can live normal, fulfilling lives.

Do you have any questions about congenital glaucoma? Share them in the comments section below.